Kostmann Sendromu: Bir Vaka Sunumu

Year 2022, Volume: 16 Issue: 2, 160 - 164, 16.03.2022

Mehmet Kılıç , Mehmet Özcan Zeynep Hüz Erdal Taşkın , Saadet Akarsu , Aşkın Şen

https://doi.org/10.12956/tchd.886720

Abstract

Ağır konjenital nötropeniler (AKN), nadir görülen olgun nötrofillerin eksikliği ile karakterize primer bir immün yetersizlik hastalığıdır. Klinik özellikler arasında doğumdan itibaren azalmış mutlak nötrofil sayısı, tekrarlayan ve yaşamı tehdit eden enfeksiyonlar vardır. Ayıca miyelodisplastik sendrom, akut miyeloblastik lösemi riskinde artış vardır.
Dört yaş kız çocuğu sık tekrarlayan ağız içi yaraları, tonsillofarenjit, yumuşak doku ve akciğer enfeksiyonları ile başvurdu. Hastanın şikâyetleri nedeniyle bir kez yoğun bakımda olmak üzere birçok kez hastaneye yatışları olmuş. Tekrarlayan enfeksiyonlar nedeniyle bir yılda yaklaşık 15 kez intravenöz veya oral antibiyotik ihtiyacı olduğu öğrenildi. Hasta ateş, halsizlik ve frontal bölgede şişlik, kızarıklık şikâyetleri ile kliniğimize başvurdu. Öyküsünde, bir yıl önce de frontal bölgede apse gelişen hastaya drenaj ve antibiyotik tedavisi uygulandığı öğrenildi. Anne baba arasında akrabalık mevcuttu. Ailede benzer şikâyetleri olan bireyler yoktu. Hastamızın genetik analizinde HAX1 (HCLS1 ilişkili protein X-1) geninde homozigot mutasyon saptandı ve AKN tip 3 tanısı konuldu. Anne ve baba da aynı heterozigot mutasyon vardı.
Özellikle tekrarlayan enfeksiyonlar ve nötropeni tespit edilen hastalarda nadir görülen bir hastalık olan Kostmann sendromunun ayırıcı tanıda düşünülmesi gerektiğini vurgulamak amacıyla bu vakayı sunduk

Keywords

Nötropeni,, Kostman Sendromu, Çocukluk çağı, Sık enfeksiyon

Supporting Institution

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Thanks

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Kostmann Syndrome: A Case Report

Abstract

Severe congenital neutropenia (SCN) is a primary immune deficiency disease characterized by a rare deficiency of mature neutrophils. Clinical features include recurrent and life-threatening infections and a reduced absolute neutrophil count from birth. There is also an increased risk of myelodysplastic syndrome and acute myeloblastic leukemia.
A four-year-old girl has recurrent oral aft, tonsillopharyngitis, soft tissue, and lung infections. Due to the complaints of the patient, she was hospitalized several times, once in intensive care. She needed intravenous or oral antibiotics about 15 times a year due to recurrent infections. The patient applied to our clinic with fever, fatigue, swelling, and redness in the frontal region. In her history has the patient was administered drainage and antibiotic therapy one year ago due to an abscess in the frontal region. There was a kinship between the parents. There were no individuals with similar complaints in the family. In our patient’s genetic analysis, there was a homozygous mutation in the HAX1 (HCLS1-associated protein X-1) gene, and SCN type 3 was diagnosed. The heterozygous same mutation was present in the mother and father.
We reported this case to emphasize that Kostmann Syndrome as a rare disease in children with recurrent infections and neutropenia.

Keywords

Childhood, Kostmann Syndrome, Neutropenia, Recurrent infections

Project Number

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References

• Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: Diagnosis, molecular bases and patient management. Orphanet J Rare Dis 2011;6:26.
• Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum. Mutat 2013;34: 905-14.
• Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 2009;144:459-67.
• Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009;360:32-43.
• Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, et al. The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood 2013;121: 5078–87.
• Boztug K, Klein C. Genetic etiologies of severe congenital neutropenia. Curr Opin Pediatr 2011; 23: 21-6.
• Carlsson G, Fasth A, Berglöf E, Lagerstedt-Robinson K, Nordenskjöld M, Palmblad J, et al. İncidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br J Haematol 2012;158:363-9.
• Kostmann R. İnfantile genetic agranulocytosis. Acta Pediatr Scand 1956; 45:1-78.
• Carlsson G, van’t Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, et al. Central nervous system involvement in severe congenital neutropenia: Neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 2008; 264:388–400.
• Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008; 111:4954–7.
• Karaca NE, Aksu G, Gülez N, Azarsız E, Kavaklı K, Klein C, ve ark. Clinical, Laboratory and Molecular Approach to Ten Children with Congenital Neutropenia. J Pediat Res 2016;3:7-12.
• Öncel MY, Metin A, Özcan C, Çay Ü, Çelikel E, Yakut Hİ, ve ark. The case of congenitale neutropenia which is presented with staphylococcal omphalitis. Jinekoloji-Obstetrik ve Neonatoloji Tıp Dergisi 2013;10: 1596-8.
• Akbayram S, Akgün C, Özkan M, Değer İ, Gündoğdu M, Yeşilmen O, ve ark. Tekrarlayan Akciğer Enfeksiyonları ile Başvuran Bir Kostmann Olgusu. Van Tıp Dergisi 2010; 17 : 58-61.
• Dale DC, Bolyard AA, Schwinzer BG, Pracht G, Bonilla MA, Boxer L, et al. The severe chronic neutropenia international registry: 10-year follow-up report. Support Cancer Ther 2006;3:220-31.
• Cottle TE, Fier CJ, Donadieu J, Kinsey SE. Risk and benefit of treatment of severe chronic neutropenia with granulocyte colony stimulating factor. Semin Hematol 2002; 39:134-40.